Varaico: Literature-Extracted Genetic Variants

Gene:CBFB
Variant:p.R90fs

CBFB

213 papers

RefSeq Summary

The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes ...

Pfam Domains

CBF_betaaa 1–168UCSCCore binding factor beta subunit

Gene Aliases

HGNC Name

core-binding factor subunit beta

HGNC Alias Symbol

PEBP2B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022845.3
p.R90fs
c.268_269fs
Surrounding Variants
1 paper
NM_022845.3
p.E91delFs
c.272_273delAA
1 paper
NM_022845.3
p.A92fs
c.274_275fs
1 paper
NM_022845.3
p.D87N
c.259G>A
1 paper
NM_022845.3
p.G93D
c.278G>A
1 paper
NM_022845.3
p.K94fs
c.280_281fs
1 paper
NM_022845.3
p.K94E
c.280A>G
1 paper
NM_022845.3
p.K94R
c.281A>G
2 papers
NM_022845.3
p.Y85*
c.255T>A
2 papers
NM_022845.3
p.Y85*
c.255T>G
2 papers
NM_022845.3
p.Y85fs
c.253_254fs
1 paper
NM_022845.3
p.Y85_E89delFs
c.255_267del13
1 paper
NM_022845.3
p.E84K
c.250G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."